True grit: The story of Cailyn Fowler (Part 3 of 3)

Past: 1995

There is an interesting parallel between Cailyn's development and the development of ivacaftor.

Seventeen years ago, Cailyn was first brought home from the hospital. She represented the tail end of an exhaustive adoption process.

Cindy and Randy, her parents, had already been married for more than 15 years, during which time they tried repeatedly to conceive a child. Cindy says that she's had 10 miscarriages in all.

They named Cailyn in honor of Caitlyn, a cousin who died in infancy.

Just an hour after being born, at about 5 a.m., Cailyn was placed into her mother's arms for the first time. Cailyn and Randy remember how tiny she was, even then.

"It was always my dream to have a family," said Cindy.

The next day, the doctors told the new parents that Cailyn was likely to have CF, something that they had barely even heard of.

The tiny newborn had to spend two months in the hospital, and then came home, wearing a colostomy bag that was a harbinger of things to come.

Cindy and Randy, both lifelong smokers, quit immediately to protect the baby's health. They have never looked back.

"Can you believe we used to smoke?" asks Randy, shaking his head. "It just doesn't seem real."

They remember that they had to hold the baby at an angle and pat her back to break up the mucus; eventually, this duty was taken over by her vibrating vest.

After 10 weeks at home, baby Cailyn was called back to the hospital, for another three-week stay. It was the beginning of a pattern of hospital stays that has continued throughout her life.

That same year, 1995, the seed that would eventually grow into ivacaftor was first planted.

While the infant Cailyn was first being diagnosed with CF, on the other side of the continent, a company named Aurora Biosciences was founded in San Diego, California by a brilliant scientist named Roger Tsien. While few in the general public know of Tsien,many have seen his work, in the form of a rabbit, or mouse, or jellyfish, or some other lifeform that has been genetically modified to give off an eerie green glow. Learning how to manipulate the luminescence gene has led to many other scientific breakthroughs, which is one of the reasons that Tsien was awarded the Nobel prize in chemistry for the discovery.

His company, Aurora Biosciences, would eventually be acquired by Vertex, and his San Diego lab would be one of two that did the research that led to ivacaftor.

Past: 1998

Cailyn grew older, but gaining every ounce was a struggle.

"For the longest time, she never went above 20 pounds," Cindy says.

Despite the constant health issues, Cailyn didn't scream and howl like many other children might have.

"For everything that went wrong, she was always a happy kid," said Cindy. "She was never cranky."

In 1998, Bob Beall, the president of the Cystic Fibrosis Foundation, made a bold decision that would ultimately impact Cailyn's life.

Beall was unhappy with the lack of results of hundreds of millions of dollars worth of research and development.

"The focus was really on gene therapy and there was really nothing significant coming of that," says Megan Goulart, manager, CF product communications at Vertex.

Beall had an idea for a different approach.

"At that point, the CF Foundation and Bob Beall ... really did something extraordinary and unique and that was shifting the focus," says Goulart.

Beall changed, perhaps forever, the manner in which medical research is funded. He entered into a partnership with commercial research companies, including Aurora Biosciences, to seek a solution for CF.

The partnership between the Cystic Fibrosis Foundation Therapeutics and Vertex (which has since acquired Aurora) is the first instance of "venture philanthropy," a term now used to describe situations in which a nonprofit foundation and a public company work together toward a common goal.

Past: 2005

Cailyn, now 10 years old, was getting used to growing up with her disease.

She didn't really mind the hospital at this point in her life. It was full of nurses with kind words, and hanging out with friends was not as central to her life as it would be to a teenager.

Her mother's coworkers at Norway Savings Bank sent her care packages filled with activities to help her pass the time. And besides, when she went into the hospital, she could barely breathe and was coughing constantly.

When she left, she felt relatively good.

Of course, she did miss her dog, Riley.

Randy and Cindy let Cailyn pick the puppy she wanted from a breeder with a little of beagles up in Greene.

Of course, she picked the runt of the litter.

This was the year, though, that Cailyn first began to ask the larger questions in life. She had lost two childhood friends to CF.

It's hard for people with CF to be friends with each other. They have to observe "the 3-foot rule." It means that, because of the high risk of passing illnesses back and forth, they can never hug, or even shake hands. They must maintain a 3-foot buffer zone to discourage germs.

Cailyn made friends anyway. She remembers one girl who stayed in an adjoining bedroom in the hospital. They used to write secret messages to each other, writing backwards on a glass partition that separated them.

Cailyn smiles recalling this. She is always smiling, it seems. But this time, the smile is a sad one.

When her friends died, it left Cailyn with questions. She was grieving, but there was another question lurking beneath the surface, almost too horrible to ask.

Finally, she came to her mother with questions about her own mortality.

"I told her that there was a lot of cause for hope," remembers Cindy. "The research that was being done, it was already helping to extend the life expectancy of people with CF. I told her, hopefully, they would develop something that would help her."

It was the best answer she could muster.

That's how it often is with the Fowler family. They dwell on the positives, not the negatives.

"I try  to pretend that I don't have CF," says Cailyn. "I kind of just ignore it."

Meanwhile, things were progressing at the Cystic Fibrosis Foundation under the leadership of Bob Beall.

While previous efforts had focused on treating the effects, the CFF attacked the root cause.

"He approached them [research companies] to see about finding compounds to potentially address the cause of the disease, which was a totally new approach for treating it," says Goulart.

Over the next couple of years, Beall and the CF Foundation began a therapeutics development program, called CFFT.  The promising new idea drew big money.

Through this program, the foundation paid more than $46 million to fund research into curing, really curing, CF. Of that amount, $20 million came from the Bill and Melinda Gates Foundation.

It is heartening to think that some small portion of the money that was leading to an effective treatment for CF was contributed by Cailyn herself.

The Fowler family, and Norway Savings Bank, often helped to organize or work for charity events to raise money for the cause. Cailyn likes doing the charitable work, although she wishes she could touch the other children she meets there.

The 3-foot rule takes that option away from her.

At any rate, a massive search was underway for the right compound to treat the genetic defects that cause CF.

It was far worse than looking for a needle in a haystack. It was more like looking for a needle on the moon.

"They screened over 200,000 compounds in order to end up eventually getting the compound that eventually turned into Kalydeco™," says Goulart. "The effort here at Vertex has been a 14-year process. There's been a lot that's gone into it."

Past: 2010

Cailyn was happy to get out of middle school.

It was the time when her peers were just learning how cruel they could be to a little girl who was a little different.

Cailyn was the subject of schoolyard taunts and names.

Despite this, she has a policy of openness about her condition, a policy that her nurse, Corrigan, says is the right approach, even if it is not always easy.

"Every year at school, when I get new teachers and stuff and new classmates, I always explain to them everything about CF just to let them know that I don't have a cold all the time," she says.

"They used to call me contagious in middle school. They'd poke me. They would be really mean," she remembers. "I learned to ignore it."

On the positive side, Cailyn began hanging out with a boy, Brandon Compton. Over the course of the summer after ninth grade, they went from being friends to being a couple.

They've been together for a year and a half now. Brandon, 16, says that her struggles against CF are just a sidenote to a great relationship.

"It doesn't matter," he says. "It doesn't change anything about how I see her or feel about her."

Brandon is an aspiring drummer who grew up to love the same heavy metal music that his dad plays and listens to. He is more than a foot taller than Cailyn, but nearly as skinny.

"She doesn't always remember to follow her treatment schedule, so I help her," he said. "Sometimes she doesn't like it, but I want to see her be healthy."

When Cailyn has a medical episode, they text to each other about it. Recently, he says, when an ambulance came to take her from school, she helped to keep him grounded.

"If she's calm, then that helps me be calm," he says.

In the evenings, when Cailyn is doing her treatments, they lay on her bed together and watch television.

Photo: Matt Hongoltz-Hetling

YOUNG LOVE — Cailyn and her boyfriend watch television together while Cailyn takes a liquid formula in through the feeding tube in her stomach. She spends 10 hours a night hooked up to the feeding bag.

They make an odd pair, the heavy metal drummer and the dancing girl with cystic fibrosis, stretched out on her bed; holding hands and laughing at episodes of Family Guy while a feeding tube pipes formula into her abdomen.

As with so many things in her life, it is both completely normal, and a little strange. There are some things, her smile now suggests, that even CF cannot take from you.

Past: 2011

About a year ago, clinical trials, involving real CF patients, were held under the requirements of FDA.

Cailyn wanted to participate, but, once again, CF took the choice away from her.

"They had the trial for it last year," she says. "Usually I took the trials, because if it was the right one or if it worked ... ." She pauses, trying to explain that every trial was a chance, no matter how slim, and therefore worthwhile. After all, she was a teen with a deadly disease that blocked her aspirations at every turn. What did she have to lose?

"I liked to try to do it," she continues.

She signed up, but at the last minute, she had to bow out of the trials.

"I couldn't do it last year because I grew bacteria in my lungs."

Finally, the drug was approved. Not for everyone, just those 4 percent of CF sufferers who have the all-important G551D mutation. And not even all of those, since children under six are not approved for ivacaftor.

In all, about 1,000 patients are able to try the miracle drug.

Still, the drug is an amazing triumph for Vertex, and for those visionary leaders who decided that a new approach was worth pouring millions of dollars into.

"We overcame the prevailing opinion that a pill could not restore the function of a defective protein in a genetic disease," said Peter Mueller, the chief scientific officer for the effort.

The sticker price on a year's supply of ivacaftor is unimaginably high – $294,000.

For now, Vertex is picking up the tab for patients who need help, like the Fowlers. 

"We developed a comprehensive financial assistance and patient support program," said Jeff Lieden, who recently became the president of Vertex. "We know that a new medicine like Kalydeco is only beneficial if people are able to get it."

Cailyn's future

CF can't really be cured, even for those 1,000 patients who, like Cailyn, can be helped by ivacaftor.

But if it can eliminate the symptoms, then it is as good as a cure for those who live with it.

The early trials have shown that patients on ivacaftor see a marked improvement in lung function, less coughing, better breathing, fewer hospital trips, and weight gain.

There are also a range of potential side effects, such as headaches, but it seems like a small price to pay.

It will be a while before the doctors are comfortable telling her to stop any of the routines that are designed to keep the mucus at bay.

But Cailyn herself reports that the early results are promising. Her teachers are telling her that they see color in cheeks that only looked pale before.

"Mr. Vandemark said that he didn't realize I had freckles until this week," she reports, just five days after taking ivacaftor for the first time.

Cailyn speaks about her future career aspirations. She would like to be a nurse, she says, although she has heard that the science classes are tough, and that she might have to dissect a cat.

For a girl with her pluck, that's only a minor inconvenience.

Since Wednesday, Cailyn has been fielding different types of questions. It's the same question – How are you feeling? – but the question that used to be asked with a sympathetic wince is now colored, instead, with an air of hopeful expectation.

Her journal, which she has been keeping since her first day on ivacaftor, tells the story.

"Day 1," it reads. "Got my appetite back and I ate a lot more than usual." 

Day 4 is a landmark. She remembers a particular breath of air, and is still talking about it, days later. It was nice, and deep, and clear. For her, an unthinkable luxury.

Tuesday, which comes six days after she began taking ivacaftor, brings the most remarkable news of all. She has gained four pounds, representing nearly a 5-percent increase in overall body weight.

She lounges at home, her color is good. She laughs, relaxed, with Brandon and her parents in her living room.

It wouldn't be fair to say that the pill has given her hope. She has always had hope; she has always been an optimist.

Now, however, there is just a bit more strength in her laugh, a steadiness in her eyes. For the first time she has more than hope.

Cailyn has confidence.

Photo: Matt Hongoltz-Hetling

CUR4CF — The license plate on Cailyn's car has been advertising a Cure for Cystic Fibrosis since she first got the car. Now, it seems that a major step has been taken toward that goal.